Individual #00122453

ID_report -
Reference PubMed: Gurvich 2009
Remarks older brother of 43194 (I-2), carrier mother
Gender M
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases BMD
Owner name Kevin Flanigan


Phenotypes

dystrophy, muscular, Becker type (BMD) (BMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000094249 elementary school nocturnal muscle cramping; 28y-unable to walk stairs carrying supplies; progressive weakness, walked with assistive devices; 67y-profound limb-girdle weakness; loss ability to walk (HP:0006957) 7y dystrophy, muscular, Becker type (BMD) BMD Familial, X-linked 67y 20y weakness running IHC DMD reduced, absent ex01 antibody; WB 10%, reduced size Kevin Flanigan



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122921 DNA MLPA;SEQ - - DMD 1 Kevin Flanigan



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Maternal (confirmed) +/. g.33229421C>T g.33211304C>T - - DMD_000546 MLPA signal 0.7-0.8, shared founder allele PubMed: Flanigan, PubMed: Flanigan 2009, PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan DMD - - - - - 1 NM_004006.2:c.9G>A - pathogenic (recessive) r.(?) p.[Leu2_Met124del, Leu2_Met128del] - - - - - - - - - - - - - - - - - - -
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